HS3ST1
geneOn this page
Also known as 3OST1
Summary
HS3ST1 (heparan sulfate-glucosamine 3-sulfotransferase 1, HGNC:5194) is a protein-coding gene on chromosome 4p15.33, encoding Heparan sulfate glucosamine 3-O-sulfotransferase 1 (O14792). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan.
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein.
Source: NCBI Gene 9957 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 58 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_005114
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5194 |
| Approved symbol | HS3ST1 |
| Name | heparan sulfate-glucosamine 3-sulfotransferase 1 |
| Location | 4p15.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 3OST1 |
| Ensembl gene | ENSG00000002587 |
| Ensembl biotype | protein_coding |
| OMIM | 603244 |
| Entrez | 9957 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000002596, ENST00000510712, ENST00000514690, ENST00000952062, ENST00000952063, ENST00000952064, ENST00000952065
RefSeq mRNA: 1 — MANE Select: NM_005114
NM_005114
CCDS: CCDS3408
Canonical transcript exons
ENST00000002596 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001287055 | 11428699 | 11428894 |
| ENSE00002024145 | 11393150 | 11400113 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 95.05.
FANTOM5 (CAGE): breadth broad, TPM avg 4.2726 / max 274.5299, expressed in 774 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 51387 | 2.6661 | 658 |
| 51388 | 0.8114 | 362 |
| 51385 | 0.3203 | 144 |
| 51389 | 0.2325 | 106 |
| 51391 | 0.1461 | 67 |
| 51386 | 0.0379 | 14 |
| 51390 | 0.0337 | 12 |
| 51382 | 0.0245 | 7 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 95.05 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.58 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 92.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.44 | gold quality |
| bronchus | UBERON:0002185 | 92.23 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 91.07 | gold quality |
| left ovary | UBERON:0002119 | 90.70 | gold quality |
| caput epididymis | UBERON:0004358 | 89.55 | gold quality |
| oral cavity | UBERON:0000167 | 89.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.42 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.40 | gold quality |
| right ovary | UBERON:0002118 | 89.33 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.26 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 88.18 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.15 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 87.96 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.65 | gold quality |
| ovary | UBERON:0000992 | 87.24 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 85.92 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 85.66 | silver quality |
| gall bladder | UBERON:0002110 | 84.26 | gold quality |
| trachea | UBERON:0003126 | 84.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.85 | gold quality |
| cerebellar vermis | UBERON:0004720 | 83.47 | gold quality |
| pancreatic ductal cell | CL:0002079 | 83.13 | silver quality |
| squamous epithelium | UBERON:0006914 | 82.92 | gold quality |
| cerebellum | UBERON:0002037 | 82.75 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 82.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.91 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8381 | no | 230.34 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting HS3ST1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
Literature-anchored findings (GeneRIF, showing 3)
- In this paper a conformational change is described that occurs in heparan sulfate 3-O-sulfotransferase-1 upon binding to heparan sulfate. (PMID:15096036)
- Golgi-targeted HS3st1 localizes in the Golgi and results in the formation of a single type of AT-binding site and high anti-factor Xa activity (PMID:24247246)
- Compared with Hs3st1+/+ mice, Hs3st1-/- mice were more susceptible to LPS-induced death due to an increased sensitivity to TNF (PMID:28126521)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Hs3st1 | ENSMUSG00000051022 |
| rattus_norvegicus | Hs3st1 | ENSRNOG00000068537 |
Paralogs (10): NDST1 (ENSG00000070614), HS3ST2 (ENSG00000122254), HS3ST3B1 (ENSG00000125430), NDST4 (ENSG00000138653), HS3ST3A1 (ENSG00000153976), HS3ST6 (ENSG00000162040), NDST3 (ENSG00000164100), NDST2 (ENSG00000166507), HS3ST4 (ENSG00000182601), HS3ST5 (ENSG00000249853)
Protein
Protein identifiers
Heparan sulfate glucosamine 3-O-sulfotransferase 1 — O14792 (reviewed: O14792)
Alternative names: Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1
All UniProt accessions (2): O14792, E9PDE3
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site.
Subcellular location. Golgi apparatus lumen.
Tissue specificity. Highly expressed in the brain and kidney and weakly expressed in the heart, lung and placenta.
Similarity. Belongs to the sulfotransferase 1 family.
RefSeq proteins (1): NP_005105* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR037359 | NST/OST | Family |
Pfam: PF00685
Enzyme classification (BRENDA):
- EC 2.8.2.23 — [heparan sulfate]-glucosamine 3-sulfotransferase 1 (BRENDA: 5 organisms, 26 substrates, 5 inhibitors, 3 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENOSINE 5’-PHOSPHOSULFATE | 0.01 | 1 |
| GLCNSO3(6-OSO3)-GLCA-GLCNSO3(6-OSO3)-IDOA(2-OSO3 | 0.006 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- alpha-D-glucosaminyl-heparan sulfate + 3’-phosphoadenylyl sulfate = 3-sulfo-alpha-D-glucosaminyl-heparan sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:15461)
UniProt features (39 total): helix 15, strand 8, binding site 5, glycosylation site 4, sequence variant 2, turn 2, signal peptide 1, chain 1, disulfide bond 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1ZRH | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14792-F1 | 90.83 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 64–68; 147; 155; 255; 270–274
Disulfide bonds (1): 256–265
Glycosylation sites (4): 249, 48, 192, 242
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022928 | HS-GAG biosynthesis |
MSigDB gene sets: 237 (showing top):
HASLINGER_B_CLL_WITH_11Q23_DELETION, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, OCT1_06, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, SANSOM_APC_TARGETS_UP, GREENBAUM_E2A_TARGETS_UP, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, YAMAZAKI_TCEB3_TARGETS_UP, SOX5_01, YNGTTNNNATT_UNKNOWN
GO Biological Process (2): glycosaminoglycan biosynthetic process (GO:0006024), heparan sulfate proteoglycan biosynthetic process (GO:0015012)
GO Molecular Function (3): sulfotransferase activity (GO:0008146), [heparan sulfate]-glucosamine 3-sulfotransferase activity (GO:0008467), transferase activity (GO:0016740)
GO Cellular Component (2): Golgi lumen (GO:0005796), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Heparan sulfate/heparin (HS-GAG) metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| aminoglycan biosynthetic process | 1 |
| glycosaminoglycan metabolic process | 1 |
| proteoglycan biosynthetic process | 1 |
| heparan sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| heparan sulfate sulfotransferase activity | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| intracellular organelle lumen | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
676 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HS3ST1 | HS2ST1 | Q7LGA3 | 877 |
| HS3ST1 | SULT1C3 | Q6IMI6 | 848 |
| HS3ST1 | SULT1C4 | O75897 | 846 |
| HS3ST1 | SULT1B1 | O43704 | 845 |
| HS3ST1 | UST | Q9Y2C2 | 791 |
| HS3ST1 | HS6ST1 | O60243 | 755 |
| HS3ST1 | GLCE | O94923 | 736 |
| HS3ST1 | K7EP71 | K7EP71 | 680 |
| HS3ST1 | EXT1 | Q16394 | 663 |
| HS3ST1 | HS6ST2 | Q96MM7 | 662 |
| HS3ST1 | HS6ST3 | Q8IZP7 | 620 |
| HS3ST1 | EXT2 | Q93063 | 614 |
| HS3ST1 | SERPINC1 | P01008 | 606 |
| HS3ST1 | SULF1 | Q8IWU6 | 586 |
| HS3ST1 | SULF2 | Q8IWU5 | 585 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| CMA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFRL | HS3ST1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMEM106A | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| B4GALT4 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| DKKL1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| IL5RA | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| LCN6 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| FGF4 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| RLN1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| CRLF1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| CBLN4 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| IFNE | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| P3H1 | FCHO1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEACAM21 | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
| LIPG | TOR1B | psi-mi:“MI:0914”(association) | 0.350 |
| KLRG2 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| MMP10 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| EDDM3A | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| CORT | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPX7 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| CST5 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| CST8 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| IL20 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| CGREF1 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS)
ESM2 similar proteins: A6QNK1, O14792, O19058, O35310, O43916, O88199, Q10979, Q11127, Q29043, Q5E9W5, Q5RJQ0, Q5XPT3, Q6P7A1, Q6XQG8, Q6XQG9, Q6XQH0, Q712G6, Q7LGC8, Q7T3S3, Q800H9, Q80WV3, Q866C5, Q866C7, Q866D2, Q866D6, Q866D9, Q866E1, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q8HYJ3, Q8HYJ4, Q8HYJ7, Q8N3Y3, Q8NET6, Q92179, Q96RP7, Q99999
Diamond homologs: O14792, O35310, O95803, O97583, Q5GFD5, Q673U1, Q80W66, Q8BKN6, Q8BSL4, Q8IZT8, Q96QI5, Q9EQW8, Q9ESG5, Q9H3R1, Q9QZS6, Q9Y278, Q9Y661, Q9Y662, Q9Y663, P52849, Q60V90, Q966W3, Q9EQH7, Q9V3L1, P52848, P52850, Q02353, Q3UHN9, Q5U4X8, Q6GQK9, Q55GK8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
568 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:11400111:TTA:T | acceptor_gain | 1.0000 |
| 4:11400114:C:CC | acceptor_gain | 1.0000 |
| 4:11428260:A:AC | donor_gain | 1.0000 |
| 4:11428261:C:CC | donor_gain | 1.0000 |
| 4:11399070:G:C | donor_gain | 0.9900 |
| 4:11400109:AATTA:A | acceptor_gain | 0.9900 |
| 4:11400110:ATTA:A | acceptor_gain | 0.9900 |
| 4:11400112:TA:T | acceptor_gain | 0.9900 |
| 4:11428246:C:CA | donor_gain | 0.9900 |
| 4:11397379:C:A | donor_gain | 0.9800 |
| 4:11400110:ATTAC:A | acceptor_gain | 0.9700 |
| 4:11400111:TTACT:T | acceptor_gain | 0.9700 |
| 4:11400115:T:A | acceptor_gain | 0.9700 |
| 4:11428310:AGGAT:A | donor_gain | 0.9700 |
| 4:11400112:TACT:T | acceptor_gain | 0.9600 |
| 4:11400113:AC:A | acceptor_gain | 0.9600 |
| 4:11400114:C:A | acceptor_gain | 0.9600 |
| 4:11428228:TCTCC:T | donor_gain | 0.9600 |
| 4:11428694:CTCA:C | donor_loss | 0.9600 |
| 4:11428695:TCA:T | donor_loss | 0.9600 |
| 4:11428696:CA:C | donor_loss | 0.9600 |
| 4:11428697:ACC:A | donor_loss | 0.9600 |
| 4:11428698:C:A | donor_loss | 0.9600 |
| 4:11400123:A:T | acceptor_gain | 0.9500 |
| 4:11397375:ACTTC:A | donor_gain | 0.9400 |
| 4:11397376:CTTCC:C | donor_gain | 0.9400 |
| 4:11400122:C:CT | acceptor_gain | 0.9400 |
| 4:11400108:CAAT:C | acceptor_gain | 0.9300 |
| 4:11400710:ATCT:A | acceptor_gain | 0.9200 |
| 4:11399309:TCTCG:T | donor_gain | 0.9100 |
AlphaMissense
2020 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:11399196:T:A | K270N | 1.000 |
| 4:11399196:T:G | K270N | 1.000 |
| 4:11399197:T:A | K270I | 1.000 |
| 4:11399212:C:G | C265S | 1.000 |
| 4:11399213:A:G | C265R | 1.000 |
| 4:11399213:A:T | C265S | 1.000 |
| 4:11399239:C:G | C256S | 1.000 |
| 4:11399240:A:G | C256R | 1.000 |
| 4:11399240:A:T | C256S | 1.000 |
| 4:11399244:A:C | F254L | 1.000 |
| 4:11399244:A:T | F254L | 1.000 |
| 4:11399246:A:G | F254L | 1.000 |
| 4:11399814:C:A | K64N | 1.000 |
| 4:11399814:C:G | K64N | 1.000 |
| 4:11399198:T:G | K270Q | 0.999 |
| 4:11399209:A:G | L266S | 0.999 |
| 4:11399211:G:C | C265W | 0.999 |
| 4:11399212:C:T | C265Y | 0.999 |
| 4:11399238:G:C | C256W | 0.999 |
| 4:11399239:C:T | C256Y | 0.999 |
| 4:11399399:A:G | W203R | 0.999 |
| 4:11399399:A:T | W203R | 0.999 |
| 4:11399424:G:C | S194R | 0.999 |
| 4:11399424:G:T | S194R | 0.999 |
| 4:11399426:T:G | S194R | 0.999 |
| 4:11399744:G:C | H88D | 0.999 |
| 4:11399815:T:A | K64M | 0.999 |
| 4:11399815:T:G | K64T | 0.999 |
| 4:11399816:T:G | K64Q | 0.999 |
| 4:11399088:C:A | W306C | 0.998 |
dbSNP variants (sampled 300 via entrez): RS10000547 (4:11425795 T>C), RS10000548 (4:11425796 T>G), RS10000714 (4:11425976 T>A,C), RS1000094062 (4:11421347 C>G), RS1000107492 (4:11424273 G>A), RS1000150615 (4:11408207 G>A), RS1000175628 (4:11408461 G>A,T), RS10002690 (4:11420321 C>T), RS1000307845 (4:11435643 A>T), RS1000357643 (4:11413015 T>C), RS1000512156 (4:11400554 T>C), RS1000540560 (4:11394377 T>C), RS1000552086 (4:11428261 C>G), RS1000581930 (4:11428423 C>T), RS1000617926 (4:11406422 CA>C)
Disease associations
OMIM: gene MIM:603244 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): arteriosclerosis disorder (MONDO:0002277), coronary artery disorder (MONDO:0005010)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0002634 | Arteriosclerosis |
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001576_2 | Nonalcoholic fatty liver disease | 3.000000e-06 |
| GCST002245_22 | Alzheimer’s disease (late onset) | 7.000000e-08 |
| GCST003064_3 | Exploratory eye movement dysfunction in schizophrenia (cognitive search score) | 3.000000e-07 |
| GCST003518_72 | Daytime sleep phenotypes | 4.000000e-06 |
| GCST003992_30 | Photic sneeze reflex | 2.000000e-41 |
| GCST006296_2 | Response to ziprazidone in schizophrenia | 1.000000e-06 |
| GCST007319_11 | Alzheimer’s disease (late onset) | 2.000000e-08 |
| GCST007687_3 | Photic sneeze reflex | 2.000000e-08 |
| GCST007843_6 | Rheumatoid arthritis | 4.000000e-09 |
| GCST007844_2 | Ankylosing spondylitis | 6.000000e-06 |
| GCST007998_11 | Intraocular pressure | 6.000000e-19 |
| GCST012182_7 | Alzheimer’s disease | 9.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007700 | exploratory eye movement measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0004695 | intraocular pressure measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001161 | Arteriosclerosis | C14.907.137.126 |
| D003324 | Coronary Artery Disease | C14.280.647.250.260; C14.907.137.126.339; C14.907.585.250.260 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 6 |
| sodium arsenite | affects methylation, increases expression | 3 |
| mercuric bromide | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Silicon Dioxide | increases expression, decreases expression | 2 |
| Smoke | increases abundance, increases expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium bichromate | decreases expression | 1 |
| vanadyl sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| corosolic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00110448 | PHASE4 | COMPLETED | Japanese Primary Prevention of Atherosclerosis With Aspirin for Diabetes (JPAD) Trial |
| NCT00154180 | PHASE4 | UNKNOWN | Kronos Early Estrogen Prevention Study (KEEPS) |
| NCT00161070 | PHASE4 | COMPLETED | ESPRIT: European/Australasian Stroke Prevention in Reversible Ischaemia Trial |
| NCT00211939 | PHASE4 | COMPLETED | CARE-2 (Calcium Acetate [PhosLo®]/Sevelamer[Renagel®] Evaluation Study 2) for Heart Calcification in Dialysis Patients |
| NCT00395382 | PHASE4 | COMPLETED | Study of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease |
| NCT00657943 | PHASE4 | COMPLETED | The Copenhagen Insulin and Metformin Therapy Trial |
| NCT02212470 | PHASE4 | COMPLETED | Drug Eluting Balloon Angioplasty Versus Nitinol Stent Implantation in the Superficial Femoral Artery |
| NCT02423265 | PHASE4 | WITHDRAWN | Efficacy of Ranolazine in Patients With Chronic Total Occlusions of Coronary Arteries |
| NCT02510547 | PHASE4 | COMPLETED | Comparison of a CrossBoss First Versus Standard Wire Escalation Strategy for Crossing Coronary Chronic Total Occlusion: the CrossBoss First Trial |
| NCT02601664 | PHASE4 | TERMINATED | Randomized-controlled Trial of a Combined vs. Conventional Percutaneous Intervention for Near-Infrared Spectroscopy Defined High-Risk Native Coronary Artery Lesions |
| NCT04624854 | PHASE4 | COMPLETED | Dual Anti-Platelet Therapy in Patients With Coronary Multi-Vessel Disease (DAPT-MVD) |
| NCT05942352 | PHASE4 | UNKNOWN | Clinical Study of Ligustrazine in Treating Alcohol Addiction |
| NCT07237308 | PHASE4 | NOT_YET_RECRUITING | BEACON-AA: Apixaban With or Without Clopidogrel in Stroke Patients With Atrial Fibrillation and Cerebral Atherosclerosis |
| NCT00025766 | PHASE4 | COMPLETED | Angioplasty and Heart Stents to Treat Individuals With an Occluded Artery Following a Heart Attack |
| NCT00079638 | PHASE4 | COMPLETED | Comparative Efficacy Evaluation of Lipids When Treated With Niaspan & Statin or Other Lipid-Modifying Therapies-COMPELL |
| NCT00111566 | PHASE4 | COMPLETED | BRIEF-PCI: Brief Infusion of Eptifibatide Following Percutaneous Coronary Intervention |
| NCT00129038 | PHASE4 | COMPLETED | Modified-release Dipyridamole/Aspirin (200mg/25mg bd) Versus Aspirin (75mg) in Aspirin-resistant Patients |
| NCT00133003 | PHASE4 | COMPLETED | Abciximab, Clopidogrel and Percutaneous Coronary Intervention in Acute Coronary Syndrome (ISAR-REACT-2) |
| NCT00133237 | PHASE4 | COMPLETED | Drug-eluting-stents for Unprotected Left Main Stem Disease (ISAR-LEFT-MAIN) |
| NCT00133692 | PHASE4 | COMPLETED | INVEST: INternational VErapamil SR Trandolapril STudy |
| NCT00139386 | PHASE4 | COMPLETED | Candesartan for Prevention of Cardiovascular Events After Cypher or Taxus Coronary Stenting (4C) Trial |
| NCT00140465 | PHASE4 | COMPLETED | 75 or 150 mg Clopidogrel Maintenance Doses Following PCI (ISAR-CHOICE-2) |
| NCT00140530 | PHASE4 | COMPLETED | Nonpolymer- and Polymer-Based Drug-Eluting Stents for Restenosis (ISAR-TEST-1) |
| NCT00146575 | PHASE4 | COMPLETED | Sirolimus- and Paclitaxel-Eluting Stents for Small Vessels (ISAR-SMART-3) |
| NCT00152308 | PHASE4 | TERMINATED | Non-Polymer-Based, Rapamycin-Eluting Stents to Prevent Restenosis |
| NCT00155350 | PHASE4 | UNKNOWN | Treatment of Coronary Atherosclerosis by Insulin Sensitizers in Insulin-Resistant Patients |
| NCT00162370 | PHASE4 | COMPLETED | A Study of Stress Echocardiography in Post-Menopausal Women at Risk for Coronary Disease |
| NCT00163202 | PHASE4 | COMPLETED | Comparative Atorvastatin Pleiotropic Effects |
| NCT00169819 | PHASE4 | COMPLETED | EArly Discharge After Transradial Stenting of CoronarY Arteries: The EASY Study |
| NCT00171275 | PHASE4 | COMPLETED | Fluvastatin in the Therapy of Acute Coronary Syndrome |
| NCT00175240 | PHASE4 | COMPLETED | Enhancing the Secondary Prevention of Coronary Artery Disease |
| NCT00180388 | PHASE4 | TERMINATED | VENEK: Healing in Different Vein Harvesting Methods During Aortocoronary Coronary Artery Bypass Graft Surgery (CABG) |
| NCT00180583 | PHASE4 | COMPLETED | Vision II: Evaluation of GALILEO Intravascular Radiotherapy System |
| NCT00189215 | PHASE4 | COMPLETED | Long-Term Cognitive Decline After Coronary Artery Bypass Grafting: is Off-Pump Surgery Beneficial? |
| NCT00200629 | PHASE4 | TERMINATED | Both Exercise and Adenosine Stress Testing |
| NCT00202904 | PHASE4 | COMPLETED | Effectiveness and Safety of Ezetimibe Added to Atorvastatin in Patients With High Cholesterol and Coronary Heart Disease (Study P03740) |
| NCT00209404 | PHASE4 | COMPLETED | Iodixanol in Multidetector-Row Computed Tomography-Coronary Angiography (MDCT-CA) |
| NCT00209430 | PHASE4 | COMPLETED | Renal Effects of Two Iodinated Contrast Media in Patients at Risk Undergoing Coronary Angiography |
| NCT00220558 | PHASE4 | UNKNOWN | GISSOC II: Sirolimus Eluting Stent Versus Bare Metal Stent in Chronic Total Coronary Occlusions |
| NCT00222261 | PHASE4 | COMPLETED | Aspirin Non-responsiveness and Clopidogrel Endpoint Trial. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arteriosclerosis disorder, metabolic dysfunction-associated steatotic liver disease